Canonical Allele Identifier: CA4182364
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 257843
ClinVar RCV Id: RCV000248006 RCV002058008
dbSNP Id: rs117000348
ExAC: 7:21856201 C / T
gnomAD v2: 7-21856201-C-T
gnomAD v3: 7-21816583-C-T
gnomAD v4: 7-21816583-C-T
MyVariant Identifiers: chr7:g.21856201C>T (hg19) chr7:g.21816583C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21816583C>T , CM000669.2:g.21816583C>T GRCh38
NC_000007.13:g.21856201C>T , CM000669.1:g.21856201C>T GRCh37
NC_000007.12:g.21822726C>T NCBI36
NG_012886.2:g.278369C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10449C>T MANE Select ENSP00000475939.1:p.Ala3483=
ENST00000328843.10:c.10470C>T ENSP00000330671.7:p.Ala3490=
ENST00000409508.7:c.10449C>T ENSP00000475939.1:p.Ala3483=
ENST00000620169.4:c.10470C>T ENSP00000481693.1:p.Ala3490=
NM_001277115.1:c.10449C>T NP_001264044.1:p.Ala3483=
NM_001277115.2:c.10449C>T MANE Select NP_001264044.1:p.Ala3483=
Search 100 bp 5'
Search 100 bp 3'